Article

A Novel Missense Mutation in NALCN Cause CLIFAHDD Syndrome and Prenatal Diagnosis in China

2021-01-04

Abstract excerpt

<title>Abstract</title> <p>Background: CLIFAHDD is caused by mutation in NALCN and characterized by facial malformation, hypotonia, and developmental delay. Recently rare mutations in NALCN associated with of CLIFAHDD syndrome have been reported. <h4>Methods:</h4> Whole exome sequencing (WES) was applied to a diagnosis suspected CLIFAHDD syndrome proband based on clinical symptoms. Blood samples were taken from t...

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Literature Corpus work: 2f6d6a48-57dd-59e2-ac68-559e1a02c78c
DOI: 10.21203/rs.3.rs-136131/v1

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